BACH1 BTB and CNC homology 1, basic leucine zipper transcription factor 1 [Homo sapiens] - Gene

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Summary

Official Symbol: BACH1provided by HGNC
Official Full Name: BTB and CNC homology 1, basic leucine zipper transcription factor 1provided by HGNC
Primary source: HGNC:935
See related: Ensembl:ENSG00000156273; HPRD:04127; MIM:602751; Vega:OTTHUMG00000078878
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BACH-1
Summary: This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2009]

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Genomic context

Location :: 21q22.11

Sequence :: Chromosome: 21; NC_000021.8 (30671220..30734217)

See BACH1 in Epigenomics, MapViewer

Chromosome 21 - NC_000021.8 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Bach1 depletion resulted in disordered mitotic chromosome alignment, which was rescued by Bach1 mutants lacking the BTB or DNA binding domains, suggesting its transcription-independent mechanism.
Title: Transcription-independent role of Bach1 in mitosis through a nuclear exporter Crm1-dependent mechanism.
Since BRCA1 and BACH1 mutations targeting the BRCA1-BACH1 interaction have been associated with breast cancer susceptibility, the results of the present study thus provide evidence for a novel role of BACH1 in tumour suppression.
Title: BRCA1-mediated repression of mutagenic end-joining of DNA double-strand breaks requires complex formation with BACH1.
We conclude that BACH1 is a bona fide Nrf2 target gene and that induction of BACH1 by Nrf2 may serve as a feedback-inhibitory mechanism for antioxidant-response-element-mediated gene regulation.
Title: Novel insights into the regulation of antioxidant-response-element-mediated gene expression by electrophiles: induction of the transcriptional repressor BACH1 by Nrf2.
The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.
Title: The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.
The BACH1 target genes in HEK 293 cells are involved in heme degradation, redox regulation, cell cycle/apoptosis pathways and subcellular transport processes.
Title: The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.
we uncover an MLH1 clinical mutation with a leucine (L)-to-histidine (H) amino acid change at position 607 in hereditary nonpolyposis colon cancer that ablates MLH1 binding to FANCJ
Title: An MLH1 mutation links BACH1/FANCJ to colon cancer, signaling, and insight toward directed therapy.
Bach1 plays a critical role in regulating HO-1 gene expression in AML cells and its expression suppresses their survival by downregulating HO-1 expression.
Title: Expression of heme oxygenase-1 in human leukemic cells and its regulation by transcriptional repressor Bach1.
prevents radiation-induced upregulation of heme oxygenase 1 gene expression in keratinocytes
Title: A role for Bach1 and HO-2 in suppression of basal and UVA-induced HO-1 expression in human keratinocytes.
miR-196 directly acts on the 3'-UTR of Bach1 messenger RNA and translationally represses the expression of this protein.
Title: MicroRNA-196 represses Bach1 protein and hepatitis C virus gene expression in human hepatoma cells expressing hepatitis C viral proteins.
The interaction between TopBP1 and BACH1 is required for the extension of single-stranded DNA regions and RPA loading following replication stress, which is a prerequisite for the subsequent activation of replication checkpoint.
Title: BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control.

Submit: New GeneRIF Correction See all (30)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
O14867	O60675	MAFK	HPRD	PubMed
O14867	Q9HBE1	PATZ1	HPRD	PubMed
BioGRID:107047	BioGRID:107047	BACH1	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:107047	BioGRID:107056	BARD1	BioGRID	PubMed	Affinity Capture-Western; Co-localization; Co-purification
BioGRID:107047	BioGRID:107142	BRCA2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107047	BioGRID:122599	BRCC3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107047	BioGRID:198294	Bach1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107047	BioGRID:109315	HDAC1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107047	BioGRID:109404	HMMR	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Two-hybrid
BioGRID:107047	BioGRID:110272	MAFG	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107047	BioGRID:113688	MAFK	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
BioGRID:107047	BioGRID:110438	MLH1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107047	BioGRID:110501	MRE11A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107047	BioGRID:110763	NBN	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107047	BioGRID:114973	NCOR1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107047	BioGRID:110852	NFE2L2	BioGRID	PubMed	Co-localization
BioGRID:107047	BioGRID:111105	PARK2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107047	BioGRID:117133	PATZ1	BioGRID	PubMed	Two-hybrid
BioGRID:107047	BioGRID:115862	RBCK1	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity
BioGRID:107047	BioGRID:116256	TOPBP1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107047	BioGRID:113010	TP53	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107047	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:107047	BioGRID:113348	XPO1	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription	IDA Inferred from Direct Assay more info	PubMed
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription	IMP Inferred from Mutant Phenotype more info
heme binding	NAS Non-traceable Author Statement more info
protein dimerization activity	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding transcription factor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
negative regulation of transcription from RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed
negative regulation of transcription from RNA polymerase II promoter	IMP Inferred from Mutant Phenotype more info
regulation of transcription from RNA polymerase II promoter in response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
regulation of transcription involved in G1/S phase of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info
regulation of transcription involved in G2/M-phase of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info

Component	Evidence Code	Pubs
colocalizes_with cytosol	IDA Inferred from Direct Assay more info	PubMed
NOT nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: transcription regulator protein BACH1

Names: transcription regulator protein BACH1; HA2303; BTB and CNC homolog 1; basic region leucine zipper transcriptional regulator BACH1

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029658.1 RefSeqGene

Range

5001..67998

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001186.2 → NP_001177.1 transcription regulator protein BACH1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AA402241, AB002803, AI336948, BC063307, BM837454, BU933041, CF890820

Consensus CDS

CCDS13585.1

UniProtKB/Swiss-Prot

O14867

UniProtKB/TrEMBL

Q6ICU0

Related

ENSP00000286800, OTTHUMP00000096563, ENST00000286800, OTTHUMT00000171973

Conserved Domains (2) summary

cl02518
Location:24 – 127
Blast Score: 274

BTB; BTB/POZ domain

cl02576
Location:558 – 618
Blast Score: 155

bZIP_1; bZIP transcription factor
NM_206866.1 → NP_996749.1 transcription regulator protein BACH1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AB002803, AF026199, AI336948, BC063307, BM837454, BU933041, CF890820

Consensus CDS

CCDS13585.1

UniProtKB/Swiss-Prot

O14867

UniProtKB/TrEMBL

Q6ICU0

Related

ENSP00000382805, OTTHUMP00000096564, ENST00000399921, OTTHUMT00000171974

Conserved Domains (2) summary

cl02518
Location:24 – 127
Blast Score: 274

BTB; BTB/POZ domain

cl02576
Location:558 – 618
Blast Score: 155

bZIP_1; bZIP transcription factor

RNA

NR_027655.1 RNA Sequence

Description

Transcript Variant: This variant (3), also named BACH1t, differs in the 5' UTR, 3' coding region and 3' UTR (compared to variant 1). This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). This transcript represents the splice variant reported by Kanezaki et al. (PMID: 11069897).

Source sequence(s)

AF317902, AF317903, BC063307, DB524401

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000021.8 Reference GRCh37.p5 Primary Assembly

Range

30671220..30734217

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000153.1 Alternate HuRef

Range

16079359..16142364

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001011545.1: Suppressed sequence

Description

NM_001011545.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AF124731.2	AAD14689.1
genomic	AL163249.2	CAB90435.1
genomic	AP000240.1 (17953..29088)	None
genomic	AP001705.1	BAA95505.1
genomic	CH471079.2	EAX09913.1
		EAX09914.1
mRNA	AA402241.1	None
mRNA	AB002803.1	BAA24932.1
mRNA	AF026199.1	AAB84100.1
mRNA	AF026200.1	AAB84101.1
mRNA	AF317902.1	AAK08197.1
mRNA	AF317903.1	None
mRNA	AI336948.1	None
mRNA	AK291021.1	BAF83710.1
mRNA	AK313791.1	BAG36528.1
mRNA	BC063307.1	AAH63307.1
mRNA	BM837454.1	None
mRNA	BU933041.1	None
mRNA	CF890820.1	None
mRNA	CR450303.1	CAG29299.1
mRNA	DB524401.1	None
other-genetic	EU446466.1	ABZ91995.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
O14867.2	GenPept	UniProtKB/Swiss-Prot:O14867
Q6ICU0	GenPept	UniProtKB/TrEMBL:Q6ICU0
Q9BXM4	GenPept	UniProtKB/TrEMBL:Q9BXM4